Varaico: Literature-Extracted Genetic Variants

PAFAH1B1

247 papers

RefSeq Summary

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit ...

Pfam Domains

LisH_PAC1aa 5–40UCSCPAC1 LisH domain

WD40aa 99–136UCSCWD domain, G-beta repeat

WD40aa 140–178UCSCWD domain, G-beta repeat

WD40aa 182–220UCSCWD domain, G-beta repeat

WD40aa 224–262UCSCWD domain, G-beta repeat

WD40aa 266–324UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

platelet activating factor acetylhydrolase 1b regulatory subunit 1

HGNC Previous Symbol

MDCR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000430.4

p.S57A

c.169T>G

Surrounding Variants

1 paper

NM_000430.4

p.S57T

c.169T>A

1 paper

NM_000430.4

p.T56A

c.166A>G

1 paper

NM_000430.4

p.W55*

c.165G>A

3 papers

NM_000430.4

p.T56delFs

c.166delA

1 paper

NM_000430.4

p.W55*

c.164G>A

1 paper

NM_000430.4

p.W55L

c.164G>T

1 paper

NM_000430.4

p.I59fs

c.175_176fs

1 paper

NM_000430.4

p.I59F

c.175A>T

1 paper

NM_000430.4

p.I59delFs

c.177delT

5 papers

NM_000430.4

p.W55R

c.163T>A

5 papers

NM_000430.4

p.W55R

c.163T>C

2 papers

NM_000430.4

p.W55insFs

c.163_164insA